J Korean Neurosurg Soc.
2025 May;68(3):321-337. 10.3340/jkns.2025.0035.
Insights into Tuberous Sclerosis Complex : From Genes to Clinics
- Kim SY
1,2
- Affiliations
-
- 1Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
- 2Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Korea
- KMID: 2567464
- DOI: http://doi.org/10.3340/jkns.2025.0035
Abstract
- Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by pathogenic variants of TSC1 or TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the formation of organ-specific tumors and neurological manifestations such as seizures, intellectual disability, and developmental delays. These characteristic clinical features are crucial for diagnosis, and genetic testing is playing an increasingly significant role. Long-term disease monitoring and appropriate interventions by multidisciplinary experts, including the use of mTOR inhibitors and promising therapeutic agents based on disease pathomechanisms, are essential for effective TSC management and improved clinical outcomes.
